CLPB ClpB family mitochondrial disaggregase

Gene ID: 81570, updated on 27-Nov-2024
Gene type: protein coding
Also known as: SCN9; SKD3; HSP78; MGCA7; ANKCLB; ANKCLP; MGCA7A; MEGCANN

Summary

This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
3-methylglutaconic aciduria, type VIIA MedGen: C5676967OMIM: 619835GeneReviews: Not available	See labs
3-methylglutaconic aciduria, type VIIB MedGen: C5676893OMIM: 616271GeneReviews: CLPB Deficiency	See labs
Neutropenia, severe congenital, 9, autosomal dominant MedGen: C5676954OMIM: 619813GeneReviews: Not available	See labs

Genomic context

Location:: 11q13.4

Sequence:: Chromosome: 11; NC_000011.10 (72285495..72434531, complement)

Total number of exons:: 19

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CLPB variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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